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Johannes N. Spelbrink
Johannes N. Spelbrink
Senior Researcher, Radboud University Medical Center, Nijmegen
Verified email at radboudumc.nl
Title
Cited by
Cited by
Year
Premature ageing in mice expressing defective mitochondrial DNA polymerase
A Trifunovic, A Wredenberg, M Falkenberg, JN Spelbrink, AT Rovio, ...
Nature 429 (6990), 417-423, 2004
30392004
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
JN Spelbrink, FY Li, V Tiranti, K Nikali, QP Yuan, M Tariq, S Wanrooij, ...
Nature genetics 28 (3), 223-231, 2001
10032001
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production
A Trifunovic, A Hansson, A Wredenberg, AT Rovio, E Dufour, I Khvorostov, ...
Proceedings of the National Academy of Sciences 102 (50), 17993-17998, 2005
6422005
TCA cycle and mitochondrial membrane potential are necessary for diverse biological functions
I Martínez-Reyes, LP Diebold, H Kong, M Schieber, H Huang, CT Hensley, ...
Molecular cell 61 (2), 199-209, 2016
5032016
What causes mitochondrial DNA deletions in human cells?
KJ Krishnan, AK Reeve, DC Samuels, PF Chinnery, JK Blackwood, ...
Nature genetics 40 (3), 275-279, 2008
4562008
Composition and dynamics of human mitochondrial nucleoids
N Garrido, L Griparic, E Jokitalo, J Wartiovaara, AM van der Bliek, ...
Molecular biology of the cell 14 (4), 1583-1596, 2003
4472003
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
H Tyynismaa, KP Mjosund, S Wanrooij, I Lappalainen, E Ylikallio, ...
Proceedings of the National Academy of Sciences 102 (49), 17687-17692, 2005
3692005
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
E Lamantea, V Tiranti, A Bordoni, A Toscano, F Bono, S Servidei, ...
Annals of neurology 52 (2), 211-219, 2002
3272002
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number
H Tyynismaa, H Sembongi, M Bokori-Brown, C Granycome, N Ashley, ...
Human molecular genetics 13 (24), 3219-3227, 2004
2882004
The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization
J He, CC Mao, A Reyes, H Sembongi, M Di Re, C Granycome, ...
The Journal of cell biology 176 (2), 141-146, 2007
2622007
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
K Nikali, A Suomalainen, J Saharinen, M Kuokkanen, JN Spelbrink, ...
Human molecular genetics 14 (20), 2981-2990, 2005
2452005
In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells
JN Spelbrink, JM Toivonen, GAJ Hakkaart, JM Kurkela, HM Cooper, ...
Journal of Biological Chemistry 275 (32), 24818-24828, 2000
2292000
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ...
Nature genetics 44 (7), 797-802, 2012
2232012
Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges
JN Spelbrink
IUBMB life 62 (1), 19-32, 2010
2172010
Human Dna2 is a nuclear and mitochondrial DNA maintenance protein
JP Duxin, B Dao, P Martinsson, N Rajala, L Guittat, JL Campbell, ...
Molecular and cellular biology 29 (15), 4274-4282, 2009
2162009
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
E Sarzi, S Goffart, V Serre, D Chrétien, A Slama, A Munnich, JN Spelbrink, ...
Annals of Neurology: Official Journal of the American Neurological …, 2007
2032007
Mammalian mitochondrial nucleoids: organizing an independently minded genome
IJ Holt, J He, CC Mao, JD Boyd-Kirkup, P Martinsson, H Sembongi, ...
Mitochondrion 7 (5), 311-321, 2007
2032007
Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells
JLO Pohjoismäki, S Wanrooij, AK Hyvärinen, S Goffart, IJ Holt, ...
Nucleic acids research 34 (20), 5815-5828, 2006
1842006
Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states
OA Kajander, AT Rovio, K Majamaa, J Poulton, JN Spelbrink, IJ Holt, ...
Human Molecular Genetics 9 (19), 2821-2835, 2000
1592000
The human SIRT3 protein deacetylase is exclusively mitochondrial
HM Cooper, JN Spelbrink
Biochemical Journal 411 (2), 279-285, 2008
1552008
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